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rs587776512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776512(C;C)
Make rs587776512(C;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position71576031
GeneTAT
is asnp
is mentioned by
dbSNPrs587776512
ebirs587776512
HLIrs587776512
Exacrs587776512
Varsomers587776512
Maprs587776512
PheGenIrs587776512
hapmaprs587776512
1000 genomesrs587776512
hgdprs587776512
ensemblrs587776512
gopubmedrs587776512
geneviewrs587776512
scholarrs587776512
googlers587776512
pharmgkbrs587776512
gwascentralrs587776512
openSNPrs587776512
23andMers587776512
23andMe allrs587776512
SNP Nexus

SNPshotrs587776512
SNPdbers587776512
MSV3drs587776512
GWAS Ctlgrs587776512
Max Magnitude0
ClinVar
Risk rs587776512(C,T;C,T)
Alt rs587776512(C,T;C,T)
Reference rs587776512(A;A)
Significance Pathogenic
Disease Tyrosinemia type 2
Variation info
Gene TAT
CLNDBN Tyrosinemia type 2
Reversed 1
HGVS NC_000016.9:g.71609934T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000433.3,